Metabolic disease

Mitochondrial cytopathy (disorder)
	Mitochondrial cytopathy
	Mitochondrial disease

Id	240096000
Status	Primitive

Global Patient Set

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E88.9
Term	Stofwisselingsstoornis, niet gespecificeerd

SNOMED CT to ICD-10 extended map

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8
Correlation	SNOMED CT source code to target map code correlation not specified

ATAD3A mitochondrial disease

Auditory neuropathy, optic atrophy syndrome

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant progressive external ophthalmoplegia5

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive optic atrophy type 7

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome

Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome

Childhood myocerebrohepatopathy spectrum

Chronic diarrhea with villous atrophy syndrome

Coenzyme Q10 deficiency3

Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 23

Combined oxidative phosphorylation defect type 24

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 26

Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 28

Combined oxidative phosphorylation defect type 29

Combined oxidative phosphorylation defect type 30

Combined oxidative phosphorylation defect type 4

Combined oxidative phosphorylation defect type 5

Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 9

Combined oxidative phosphorylation deficiency type 20

Cytochrome-c oxidase deficiency7

Deficiency of mitochondrial complex III

Demyelination of central nervous system co-occurrent and due to mitochondrial disease

Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome

Encephalopathy due to mitochondrial and peroxisomal fission defect

Epileptic encephalopathy with global cerebral demyelination

Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome

Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile onset spinocerebellar ataxia

Kearns-Sayre syndrome

Leber's optic atrophy1

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome

Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome

Lipoic acid synthetase deficiency

Lipoyl transferase 1 deficiency

Liver disease co-occurrent and due to mitochondrial disorder

Maternally inherited cardiomyopathy and hearing loss syndrome

Maternally inherited diabetes and deafness

Maternally inherited mitochondrial dystonia

MEHMO syndrome

MEPAN syndrome

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Mitochondrial metabolism defect1

Mitochondrial myopathy27

Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease2

Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy

Non-syndromic mitochondrial sensorineural deafness

Ocular anomalies, axonal neuropathy, developmental delay syndrome

Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

Parkinsonism with polyneuropathy

Renal tubulopathy with encephalopathy and liver failure syndrome

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Zellweger-like syndrome without peroxisomal anomaly